Assay Details
Target Gene Details
Entrez Gene ID: | 8467 |
Gene Name: | SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 |
Gene Aliases: |
ISWI, SNF2H, WCRF135, hISWI, hSNF2H |
Location: |
Chr.4:143513463-143557489 on Build GRCh38 |
Assay Gene Location: | Within Exon 11 |
Gene Symbol | Transcript Accession | Exon Location | Assay Transcript Location | Protein ID |
---|---|---|---|---|
SMARCA5 | NM_003601.3 | 11 | 1816 | NP_003592.3 |
AB010882.1 | 11 | 1556 | BAA25173.1 | |
AK302841.1 | 12 | 1451 | ||
AK308424.1 | 11 | 1546 | ||
AK316444.1 | 12 | 1618 | ||
BC023144.1 | 11 | 1567 | AAH23144.1 |
Target Copy Number Variation Details
DGV Version: |
Release date: 2016-05-15, GRCh GRCh38 |
Target Variation |
Location | CNV Subtype |
Genes |
---|---|---|---|
esv2759288 | Chr.4:143427140 - 144210439 on Build GRCh38 | Gain+Loss | SMARCA5 LOC105377458 GYPA SMARCA5-AS1 GYPE LOC101927636 GUSBP5 FREM3 GYPB GAB1 |
nsv830103 | Chr.4:143472245 - 143631892 on Build GRCh38 | Loss | SMARCA5 SMARCA5-AS1 GUSBP5 FREM3 GAB1 |
More Information
Set Membership: |
Intragenic Exonic DGV Variation |